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Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.
Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"
Late-onset junctional epidermolysis bullosa
JEB-lo · Epidermolysis bullosa progressiva
Glycogen storage disease due to acid maltase deficiency, late-onset
GSD type II, late-onset · Glycogen storage disease type II, late-onset
Late-infantile/juvenile Krabbe disease
Krabbe disease, late-onset